Flinders Medical Centre Foundation
Flinders Medical Centre Foundation

Nance Horan Syndrome

Understanding Congenital Cataract Formation
First Published: Investigator - April 2007

Researchers at Flinders are leading the world with the recent discovery of a gene, which when mutated, is responsible for the formation of cataracts in Nance-Horan Syndrome (NHS).

Nance-Horan Syndrome is a rare genetic condition largely affecting infant males. Along with dental defects, cranio-facial abnormalities and the probability of mental retardation, babies with NHS develop severe cataracts at birth, usually within both eyes and invasive surgery must be undertaken urgently to prevent blindness. The gene has been found to have a role in the development of the brain and teeth and is important in the development of the lens of the eye.

Dr Shiwani Sharma, Senior Research Officer in the Department of Ophthalmology, is particularly interested in this gene as it may hold clues to create a better understanding of congenital cataract formation.

Cataracts are the leading cause of blindness around the world. They form when the lens of the eye develops opacity, and usually results in severe vision impairment. If not caught early enough the development of full blindness is a strong possibility.

Age related cataracts are the most common form in the world-wide population, however one in every 10,000 children around the world develop cataracts due to an inherited mutated gene or the mother getting a viral infection during pregnancy. Currently the only treatment for cataracts is invasive surgery.

“Genetic and molecular studies of severe childhood diseases such as NHS could lead to the identification of genes that cause more common adult forms of cataract,” said Dr Sharma.

This project is delving deeper to further understand the NHS gene. This information will provide better knowledge of how cataracts form and how the lens of the eye develops.

“Knowledge of the genetic and molecular causes of congenital cataract will help us understand cataract formation with the ultimate aim of providing better diagnosis and timely treatments for such disorders,” said Dr Sharma.

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